Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
73 | 0.557 | 0.760 | 20 | 46011586 | missense variant | A/G | snv | 0.39 | 0.36 | 0.010 | < 0.001 | 1 | 2015 | 2015 | |||
|
187 | 0.458 | 0.760 | 9 | 5073770 | missense variant | G/A;T | snv | 3.5E-04 | 0.900 | 0.960 | 274 | 2005 | 2019 | ||||
|
12 | 0.790 | 0.200 | 2 | 8731667 | missense variant | C/A | snv | 2.4E-04 | 2.6E-04 | 0.040 | 1.000 | 4 | 2013 | 2015 | |||
|
25 | 0.683 | 0.240 | 1 | 43349338 | missense variant | G/C;T | snv | 8.0E-06 | 0.030 | 1.000 | 3 | 2008 | 2010 | ||||
|
83 | 0.550 | 0.880 | 5 | 1286401 | 3 prime UTR variant | C/A | snv | 0.52 | 0.030 | 1.000 | 3 | 2015 | 2018 | ||||
|
10 | 0.851 | 0.120 | 6 | 135106006 | upstream gene variant | C/A | snv | 0.24 | 0.020 | 1.000 | 2 | 2015 | 2017 | ||||
|
9 | 0.763 | 0.120 | 1 | 64846664 | missense variant | C/A | snv | 0.700 | 1.000 | 1 | 2005 | 2005 | |||||
|
3 | 0.882 | 0.080 | 9 | 5057284 | intron variant | T/A | snv | 0.33 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
3 | 0.882 | 0.080 | 9 | 5072846 | intron variant | G/A | snv | 0.23 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
102 | 0.524 | 0.760 | 11 | 46725976 | missense variant | C/T | snv | 8.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 0.080 | 9 | 5189773 | upstream gene variant | T/G | snv | 0.33 | 0.010 | 1.000 | 1 | 2011 | 2011 | ||||
|
2 | 0.925 | 0.080 | 9 | 104830968 | missense variant | C/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2019 | 2019 | ||||
|
614 | 0.330 | 0.920 | 1 | 11796309 | missense variant | A/G | snv | 4.0E-06 | 7.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | |||
|
3 | 0.925 | 0.080 | 9 | 5070026 | missense variant | AA/TT | mnv | 0.010 | 1.000 | 1 | 2012 | 2012 | |||||
|
51 | 0.605 | 0.520 | 2 | 208248389 | missense variant | G/A;C;T | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
8 | 0.790 | 0.120 | 1 | 43349337 | missense variant | TG/AA | mnv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
3 | 0.925 | 0.080 | 9 | 5063296 | intron variant | G/T | snv | 0.34 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
5 | 0.851 | 0.080 | 9 | 5065750 | intron variant | G/C | snv | 0.23 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
2 | 0.925 | 0.080 | 21 | 34792289 | missense variant | G/A | snv | 7.0E-06 | 0.010 | 1.000 | 1 | 2013 | 2013 | ||||
|
84 | 0.547 | 0.520 | 19 | 39248147 | intron variant | C/T | snv | 0.39 | 0.010 | 1.000 | 1 | 2018 | 2018 | ||||
|
3 | 0.925 | 0.080 | 17 | 78358688 | missense variant | G/C;T | snv | 4.1E-06; 2.1E-04 | 0.010 | 1.000 | 1 | 2009 | 2009 | ||||
|
3 | 0.925 | 0.080 | 3 | 168930251 | downstream gene variant | T/C | snv | 0.63 | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||
|
11 | 0.763 | 0.280 | 15 | 90088703 | missense variant | G/A;C | snv | 0.010 | 1.000 | 1 | 2010 | 2010 | |||||
|
3 | 0.882 | 0.080 | 19 | 11390564 | intron variant | A/G | snv | 0.73 | 0.010 | 1.000 | 1 | 2008 | 2008 | ||||
|
62 | 0.562 | 0.760 | 6 | 31575324 | upstream gene variant | G/A | snv | 4.6E-02 | 0.010 | 1.000 | 1 | 2019 | 2019 |